A functional synonymous coding variant in the IL1RN gene is associated with survival in septic shock.

ABSTRACT:

Rationale

Death from infection is a highly heritable trait, yet there are few genetic variants with known mechanism influencing survival during septic shock.

Objectives

We hypothesized that a synonymous coding variant in the IL-1 receptor antagonist gene (IL1RN), rs315952, previously associated with reduced risk for acute respiratory distress syndrome, would be functional and associate with improved survival in septic shock.

Methods

We used a human endotoxin (LPS) model of evoked inflammatory stress to measure plasma IL-1 receptor antagonist (IL1RA) following low-dose Food and Drug Administration-grade LPS injection (1 ng/kg) in 294 human volunteers. RNA sequencing of adipose tissue pre- and post-LPS was used to test for allelic imbalance at rs315952. In the Vasopress

SUBMITTER: Meyer NJ 

PROVIDER: S-EPMC4214110 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature